Linked Data
dbSNP Id:
rs113317269
gnomAD v2:
14-45046629-C-T
gnomAD v3:
14-44577426-C-T
gnomAD v4:
14-44577426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.44577426C>T , CM000676.2:g.44577426C>T | GRCh38 |
| NC_000014.8:g.45046629C>T , CM000676.1:g.45046629C>T | GRCh37 |
| NC_000014.7:g.44116379C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_943800.1:n.330+19483G>A | ||
| XR_943801.1:n.330+19483G>A | ||
| XR_943806.1:n.330+19483G>A | ||
| XR_943808.1:n.127-183688G>A |